Linked Data
ClinVar Variation Id:
348515
ClinVar RCV Id:
RCV000310990
dbSNP Id:
rs149506792
gnomAD v2:
4-25122151-T-C
gnomAD v3:
4-25120529-T-C
gnomAD v4:
4-25120529-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25120529T>C , CM000666.2:g.25120529T>C | GRCh38 |
| NC_000004.11:g.25122151T>C , CM000666.1:g.25122151T>C | GRCh37 |
| NC_000004.10:g.24731249T>C | NCBI36 |
| NG_028222.1:g.45054A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.*3402A>G MANE Select | ENSP00000371535.2:n.*3402A>G | |
| ENST00000680581.1:c.*3782A>G | ENSP00000506483.1:n.*3782A>G | |
| ENST00000680824.1:n.6124A>G | ||
| ENST00000681071.1:n.5200A>G | ||
| ENST00000681341.1:n.5955A>G | ||
| ENST00000681374.1:n.4264A>G | ||
| ENST00000681948.1:c.*3402A>G | ENSP00000505991.1:n.*3402A>G | |
| ENST00000382103.6:c.*3402A>G | ENSP00000371535.2:n.*3402A>G | |
| NM_016955.3:c.*3402A>G | NP_058651.3:n.*3402A>G | |
| XM_005248168.2:c.*3402A>G | XP_005248225.1:n.*3402A>G | |
| XM_006713965.2:c.*3402A>G | XP_006714028.1:n.*3402A>G | |
| XM_011513846.1:c.*3402A>G | XP_011512148.1:n.*3402A>G | |
| XM_011513847.1:c.*3402A>G | XP_011512149.1:n.*3402A>G | |
| XM_011513848.1:c.*3402A>G | XP_011512150.1:n.*3402A>G | |
| XM_011513846.2:c.*3402A>G | XP_011512148.1:n.*3402A>G | |
| XM_011513847.2:c.*3402A>G | XP_011512149.1:n.*3402A>G | |
| XM_017008277.1:c.*3402A>G | XP_016863766.1:n.*3402A>G | |
| XM_017008278.1:c.*3402A>G | XP_016863767.1:n.*3402A>G | |
| NM_016955.4:c.*3402A>G MANE Select | NP_058651.3:n.*3402A>G |